Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.E628*
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IGHMBP2

NM_002180.3:p.E628*

Associated Papers

Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.

Gao S et al.

Orphanet Journal of Rare Diseases, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."